Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres

Journal of Inherited Metabolic Disease

Volumn 31, Issue 3, 2008, Pages 361-367

  Zwickler, T ^a   Lindner, M ^a   Aydin, H I ^b   Baumgartner, M R ^c   Bodamer, O A ^d   Burlina, A B ^e   Das, A M ^f   deKlerk, J B C ^g   Gokcay G ^h   Grunewald S ⁱ   Guffon, N ^j   Maier, E M ^k   Morava, E ^l   Geb, S ^m   Schwahn, B ⁿ   Walter, J H ^o   Wendel, U ^p   Wijburg, F A ^a   Muller E ^a   Kolker S ^a   Hörster, Friederike ^a   more..

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^b HACETTEPE UNIVERSITY   (Turkey)

^c UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^d UNIVERSITY OF VIENNA   (Austria)

^e UNIVERSITY HOSPITAL OF PADOVA   (Italy)

^f HANNOVER MEDICAL SCHOOL   (Germany)

^g SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^h Children's Hospital   (Turkey)

ⁱ GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^j EDOUARD HERRIOT HOSPITAL   (France)

^k LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^l RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^m UNIVERSITY HOSPITAL FRANKFURT   (Germany)

ⁿ UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^o ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^p ACADEMIC MEDICAL CENTER   (Netherlands)

more..

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; ANTIBIOTIC AGENT; CARNITINE; COBALAMIN; CYANOCOBALAMIN; HYDROXOCOBALAMIN;

ARTICLE; CHILD; CLINICAL PRACTICE; CLINICAL PROTOCOL; DIET THERAPY; DRUG INTERMITTENT THERAPY; DRUG RESPONSE; ENZYME ACTIVITY; EUROPE; FIBROBLAST; HUMAN; INFANT; LONG TERM CARE; MAINTENANCE THERAPY; MAJOR CLINICAL STUDY; METHYLMALONIC ACIDEMIA; METHYLMALONIC ACIDURIA; MUTATIONAL ANALYSIS; PATIENT MONITORING; PROTEIN INTAKE; QUESTIONNAIRE; STANDARDIZATION;

ADOLESCENT; ADULT; AMINO ACID METABOLISM, INBORN ERRORS; CHILD; CHILD, PRESCHOOL; HUMANS; HYDROXOCOBALAMIN; INFANT; INFANT, NEWBORN; METHYLMALONIC ACID; VITAMIN B 12;

EID: 45849120177     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-008-0804-2     Document Type: Article

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